title: Molecular cloning and mapping of human semaphorin F from the Cri-du-chat candidate interval.
abstract: Cri-du-chat is a human contiguous gene deletion syndrome resulting from hemizygous deletions of chromosome 5p. Here we describe the isolation from within this interval of the human Semaphorin F (SEMAF) gene, a member of a family of proteins that has been implicated in axonal pathfinding. The human SEMAF gene covers at least 10% of the deleted region and defines a new class within this large gene family characterized by the presence of seven type 1 thrombospondin repeats. Prominent expression of murine semaphorin F (Semaf) was observed in the mouse brain, consistent with a role for semaphorin F as a signaling molecule that guides axons or migrating neuronal precursors during development. The known functions of semaphorins and the interesting pattern of expression for Semaf suggest that haploinsufficiency for SEMAF may disrupt normal brain development and might lead to some of the features of Cri-du-chat.
authors.affiliation: Department of Otorhinolaryngology, University of Texas Southwestern Medical Center, Dallas 75235-8591, USA.
authors.forename: A D
authors.initials: AD
authors.lastname: Simmons
authors.forename: A W
authors.initials: AW
authors.lastname: Püschel
authors.forename: J D
authors.initials: JD
authors.lastname: McPherson
authors.forename: J
authors.initials: J
authors.lastname: Overhauser
authors.forename: M
authors.initials: M
authors.lastname: Lovett
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D015152:Blotting, Northern; D001921:Brain / Q000166:cytology / Q000254:growth & development; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D003001:Cloning, Molecular; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D005786:Gene Expression Regulation / Q000235:genetics; D006801:Humans; D017403:In Situ Hybridization; D008565:Membrane Proteins / Q000737:chemistry* / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000737:chemistry* / Q000235:genetics; D012326:RNA Splicing / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D039961:Semaphorins; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion / Q000235:genetics; D019699:Thrombospondins / Q000235:genetics
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C491228:SEMA5A protein, human; C491229:Sema3f protein, mouse; D039961:Semaphorins; D019699:Thrombospondins